Canonical Allele Identifier: CA347220598

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71664413T>A , CM000664.2:g.71664413T>A	GRCh38
NC_000002.11:g.71891543T>A , CM000664.1:g.71891543T>A	GRCh37
NC_000002.10:g.71745051T>A	NCBI36
NG_008694.1:g.215791T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5149T>A MANE Select	NP_001124459.1:p.Cys1717Ser
ENST00000410020.8:c.5149T>A MANE Select	ENSP00000386881.3:p.Cys1717Ser
NM_003494.4:c.5032T>A MANE Plus Clinical	NP_003485.1:p.Cys1678Ser
ENST00000258104.8:c.5032T>A MANE Plus Clinical	ENSP00000258104.3:p.Cys1678Ser
NM_001130455.1:c.5035T>A	NP_001123927.1:p.Cys1679Ser
NM_001130455.2:c.5035T>A	NP_001123927.1:p.Cys1679Ser
NM_001130976.1:c.4990T>A	NP_001124448.1:p.Cys1664Ser
NM_001130976.2:c.4990T>A	NP_001124448.1:p.Cys1664Ser
NM_001130977.1:c.5053T>A	NP_001124449.1:p.Cys1685Ser
NM_001130977.2:c.5053T>A	NP_001124449.1:p.Cys1685Ser
NM_001130978.1:c.5095T>A	NP_001124450.1:p.Cys1699Ser
NM_001130978.2:c.5095T>A	NP_001124450.1:p.Cys1699Ser
NM_001130979.1:c.5125T>A	NP_001124451.1:p.Cys1709Ser
NM_001130979.2:c.5125T>A	NP_001124451.1:p.Cys1709Ser
NM_001130980.1:c.5083T>A	NP_001124452.1:p.Cys1695Ser
NM_001130980.2:c.5083T>A	NP_001124452.1:p.Cys1695Ser
NM_001130981.1:c.5146T>A	NP_001124453.1:p.Cys1716Ser
NM_001130981.2:c.5146T>A	NP_001124453.1:p.Cys1716Ser
NM_001130982.1:c.5128T>A	NP_001124454.1:p.Cys1710Ser
NM_001130982.2:c.5128T>A	NP_001124454.1:p.Cys1710Ser
NM_001130983.1:c.5098T>A	NP_001124455.1:p.Cys1700Ser
NM_001130983.2:c.5098T>A	NP_001124455.1:p.Cys1700Ser
NM_001130984.1:c.5056T>A	NP_001124456.1:p.Cys1686Ser
NM_001130984.2:c.5056T>A	NP_001124456.1:p.Cys1686Ser
NM_001130985.1:c.5086T>A	NP_001124457.1:p.Cys1696Ser
NM_001130985.2:c.5086T>A	NP_001124457.1:p.Cys1696Ser
NM_001130986.1:c.4993T>A	NP_001124458.1:p.Cys1665Ser
NM_001130986.2:c.4993T>A	NP_001124458.1:p.Cys1665Ser
NM_001130987.1:c.5149T>A	NP_001124459.1:p.Cys1717Ser
NM_003494.3:c.5032T>A	NP_003485.1:p.Cys1678Ser
ENST00000258104.7:c.5032T>A	ENSP00000258104.3:p.Cys1678Ser
ENST00000394120.6:c.5035T>A	ENSP00000377678.2:p.Cys1679Ser
ENST00000409366.5:c.5098T>A	ENSP00000386512.1:p.Cys1700Ser
ENST00000409582.7:c.5146T>A	ENSP00000386547.3:p.Cys1716Ser
ENST00000409651.5:c.5128T>A	ENSP00000386683.1:p.Cys1710Ser
ENST00000409744.5:c.5056T>A	ENSP00000386285.1:p.Cys1686Ser
ENST00000409762.5:c.5083T>A	ENSP00000387137.1:p.Cys1695Ser
ENST00000410020.7:c.5149T>A	ENSP00000386881.3:p.Cys1717Ser
ENST00000410041.1:c.5086T>A	ENSP00000386617.1:p.Cys1696Ser
ENST00000413539.6:c.5125T>A	ENSP00000407046.2:p.Cys1709Ser
ENST00000429174.6:c.5095T>A	ENSP00000398305.2:p.Cys1699Ser
ENST00000479049.6:n.1917T>A
ENST00000698057.1:c.2563T>A	ENSP00000513536.1:p.Cys855Ser
ENST00000698058.1:c.1780T>A	ENSP00000513537.1:p.Cys594Ser
ENST00000698059.1:c.1888T>A	ENSP00000513538.1:p.Cys630Ser
XM_005264584.3:c.5191T>A	XP_005264641.1:p.Cys1731Ser
XM_005264584.4:c.5191T>A	XP_005264641.1:p.Cys1731Ser
XM_005264585.3:c.5188T>A	XP_005264642.1:p.Cys1730Ser
XM_005264585.5:c.5188T>A	XP_005264642.1:p.Cys1730Ser
XR_001738969.1:n.5349T>A